PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000600006	[[59062932, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065464]]	[[59063015, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065464]]
ENST00000600118	[[59062932, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59066005]]	[[59063015, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065579]]
ENST00000601220	[[59062932, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065603], [59066231, 59066340]]	[[59063015, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065579]]
ENST00000312547	[[59062932, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065603], [59066354, 59066491]]	[[59063015, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065579]]
ENST00000596708	[[59063421, 59063552], [59063625, 59063805], [59065411, 59065603], [59066143, 59066327]]	[[59063421, 59063552], [59063625, 59063805], [59065411, 59065579]]
ENST00000597209	[[59063464, 59063805], [59065411, 59065603], [59066231, 59066360]]	None
ENST00000600804	[[59065114, 59065603], [59066354, 59066457]]	None
ENST00000597848	[[59065412, 59065603], [59066039, 59066357]]	[[59065412, 59065579]]
NM_198426	[[59062932, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065603], [59066231, 59066370]]	[[59063015, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065579]]
NM_014453	[[59062932, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065603], [59066354, 59066491]]	[[59063015, 59063143], [59063272, 59063334], [59063421, 59063552], [59063625, 59063805], [59065411, 59065579]]

Promoter

Chrom	Start	End	Description
chr19	59066327	59066389	CAGE_peak_2_at_CHMP2A_5end
chr19	59066398	59066410	CAGE_peak_3_at_CHMP2A_5end
chr19	59066452	59066496	CAGE_peak_1_at_CHMP2A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I058553	58553537	58560688	2.34	[{'connected_gene': 'UBE2M', 'score': 550.77}, {'connected_gene': 'CHMP2A', 'score': 550.77}, {'connected_gene': 'TRIM28', 'score': 80.14}, {'connected_gene': 'ZNF417', 'score': 58.65}, {'connected_gene': 'ZNF134', 'score': 57.03}, {'connected_gene': 'ZNF606', 'score': 54.49}, {'connected_gene': 'ZNF274', 'score': 46.08}, {'connected_gene': 'MZF1', 'score': 45.22}, {'connected_gene': 'LOC100128398', 'score': 42.41}, {'connected_gene': 'ERVK3-1', 'score': 40.47}, {'connected_gene': 'ZNF550', 'score': 39.34}, {'connected_gene': 'ZNF586', 'score': 36.91}, {'connected_gene': 'ZNF329', 'score': 34.35}, {'connected_gene': 'ZNF324B', 'score': 33.77}, {'connected_gene': 'ZNF418', 'score': 33.61}, {'connected_gene': 'ZNF446', 'score': 33.42}, {'connected_gene': 'MZF1-AS1', 'score': 29.54}, {'connected_gene': 'ZNF776', 'score': 28.69}, {'connected_gene': 'ZNF135', 'score': 24.97}, {'connected_gene': 'ZSCAN22', 'score': 23.03}, {'connected_gene': 'ZSCAN18', 'score': 22.47}, {'connected_gene': 'ZNF544', 'score': 21.64}, {'connected_gene': 'ZNF587B', 'score': 21.55}, {'connected_gene': 'ZNF587', 'score': 21.47}, {'connected_gene': 'LOC105372482', 'score': 20.64}, {'connected_gene': 'RPS5', 'score': 20.17}, {'connected_gene': 'LOC100419848', 'score': 20.11}, {'connected_gene': 'ENSG00000268392', 'score': 18.22}, {'connected_gene': 'ZNF584', 'score': 17.57}, {'connected_gene': 'CENPBD1P1', 'score': 16.5}, {'connected_gene': 'ZNF551', 'score': 16.1}, {'connected_gene': 'ENSG00000268912', 'score': 14.79}, {'connected_gene': 'ZIK1', 'score': 14.33}, {'connected_gene': 'ZNF132', 'score': 13.22}, {'connected_gene': 'ENSG00000268201', 'score': 12.56}, {'connected_gene': 'ZNF530', 'score': 12.28}, {'connected_gene': 'ZNF416', 'score': 12.04}, {'connected_gene': 'ZNF256', 'score': 11.74}, {'connected_gene': 'LOC105372483', 'score': 10.96}, {'connected_gene': 'ENSG00000232098', 'score': 10.78}, {'connected_gene': 'ZNF324', 'score': 10.76}, {'connected_gene': 'ZSCAN1', 'score': 10.31}, {'connected_gene': 'ENSG00000269600', 'score': 4.38}]
chr19	GH19I058517	58517247	58522169	2.83	[{'connected_gene': 'ZBTB45', 'score': 560.04}, {'connected_gene': 'PIR40518', 'score': 550.77}, {'connected_gene': 'ZNF324B', 'score': 58.62}, {'connected_gene': 'TRIM28', 'score': 47.96}, {'connected_gene': 'ZNF446', 'score': 41.93}, {'connected_gene': 'ZNF134', 'score': 38.29}, {'connected_gene': 'ZNF417', 'score': 37.5}, {'connected_gene': 'ZSCAN22', 'score': 34.61}, {'connected_gene': 'ZNF549', 'score': 32.67}, {'connected_gene': 'ZNF274', 'score': 31.01}, {'connected_gene': 'CENPBD1P1', 'score': 29.16}, {'connected_gene': 'LOC105372483', 'score': 26.97}, {'connected_gene': 'ZNF584', 'score': 26.55}, {'connected_gene': 'ENSG00000268543', 'score': 24.39}, {'connected_gene': 'ZNF135', 'score': 24.3}, {'connected_gene': 'ZNF550', 'score': 23.64}, {'connected_gene': 'ENSG00000232098', 'score': 23.61}, {'connected_gene': 'ZNF132', 'score': 22.8}, {'connected_gene': 'ZNF256', 'score': 22.46}, {'connected_gene': 'MZF1', 'score': 22.24}, {'connected_gene': 'ZSCAN18', 'score': 21.59}, {'connected_gene': 'ZNF606', 'score': 20.9}, {'connected_gene': 'ZNF587', 'score': 20.82}, {'connected_gene': 'ZNF530', 'score': 13.31}, {'connected_gene': 'LOC100128398', 'score': 13.16}, {'connected_gene': 'UBE2M', 'score': 13.11}, {'connected_gene': 'CHMP2A', 'score': 13.11}, {'connected_gene': 'ENSG00000268912', 'score': 12.77}, {'connected_gene': 'LOC105372482', 'score': 12.21}, {'connected_gene': 'ZNF329', 'score': 11.79}, {'connected_gene': 'ZNF587B', 'score': 11.79}, {'connected_gene': 'RNU6-1337P', 'score': 11.6}, {'connected_gene': 'ZNF418', 'score': 11.3}, {'connected_gene': 'ZNF776', 'score': 11.05}, {'connected_gene': 'ZNF324', 'score': 10.97}, {'connected_gene': 'ZNF551', 'score': 10.84}, {'connected_gene': 'LOC100419848', 'score': 10.47}, {'connected_gene': 'ZSCAN4', 'score': 10.33}, {'connected_gene': 'ZNF544', 'score': 9.98}, {'connected_gene': 'ZNF586', 'score': 9.87}, {'connected_gene': 'LOC105372486', 'score': 0.44}]
chr19	GH19I058566	58566861	58566921	0.24	[{'connected_gene': 'CHMP2A', 'score': 1.68}, {'connected_gene': 'MZF1-AS1', 'score': 0.44}, {'connected_gene': 'MZF1', 'score': 0.44}, {'connected_gene': 'CENPBD1P1', 'score': 0.44}]
chr19	GH19I058522	58522634	58523207	0.31	[{'connected_gene': 'TRIM28', 'score': 13.18}, {'connected_gene': 'CHMP2A', 'score': 13.13}, {'connected_gene': 'UBE2M', 'score': 13.11}, {'connected_gene': 'MZF1', 'score': 11.92}, {'connected_gene': 'CENPBD1P1', 'score': 11.92}, {'connected_gene': 'RNU6-1337P', 'score': 11.6}, {'connected_gene': 'ZNF446', 'score': 11.57}, {'connected_gene': 'ZNF324', 'score': 10.96}, {'connected_gene': 'ZNF324B', 'score': 10.74}, {'connected_gene': 'PIR40518', 'score': 0.77}, {'connected_gene': 'ZBTB45', 'score': 0.37}]
chr19	GH19I058580	58580516	58582012	1.14	[{'connected_gene': 'PIR59692', 'score': 550.77}, {'connected_gene': 'ENSG00000268784', 'score': 550.77}, {'connected_gene': 'TRIM28', 'score': 26.13}, {'connected_gene': 'ZNF274', 'score': 16.59}, {'connected_gene': 'ZNF417', 'score': 15.9}, {'connected_gene': 'CENPBD1P1', 'score': 13.05}, {'connected_gene': 'ZNF587', 'score': 12.55}, {'connected_gene': 'ZNF586', 'score': 12.32}, {'connected_gene': 'ZBTB45', 'score': 12.3}, {'connected_gene': 'UBE2M', 'score': 12.28}, {'connected_gene': 'CHMP2A', 'score': 12.25}, {'connected_gene': 'RNU6-1337P', 'score': 11.14}, {'connected_gene': 'ZNF446', 'score': 11.13}, {'connected_gene': 'RPS5', 'score': 11.0}, {'connected_gene': 'ZSCAN22', 'score': 10.88}, {'connected_gene': 'ZNF134', 'score': 10.77}, {'connected_gene': 'ZNF132', 'score': 10.52}, {'connected_gene': 'ZNF587B', 'score': 10.17}, {'connected_gene': 'ENSG00000232098', 'score': 5.73}, {'connected_gene': 'MZF1', 'score': 0.44}]